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260379002: Impaired (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
387919014 Impaired en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
652129014 Impaired (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Impaired Is a Degree findings true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
L1 syndrome Has interpretation True Impaired Inferred relationship Some 3
Trisomy 10p (disorder) Has interpretation True Impaired Inferred relationship Some 4
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Wolf Hirschhorn syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Has interpretation True Impaired Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Has interpretation True Impaired Inferred relationship Some 5
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Megalocornea with intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
SCARF syndrome Has interpretation True Impaired Inferred relationship Some 6
Temtamy preaxial brachydactyly syndrome Has interpretation True Impaired Inferred relationship Some 6
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Has interpretation True Impaired Inferred relationship Some 3
Severe intellectual disability and progressive spastic paraplegia Has interpretation False Impaired Inferred relationship Some 5
Atypical hypotonia cystinuria syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Synaptic Ras GTPase activating protein 1- related intellectual disability Has interpretation False Impaired Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Has interpretation False Impaired Inferred relationship Some 4
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) Has interpretation True Impaired Inferred relationship Some 2
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Has interpretation True Impaired Inferred relationship Some 3
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Has interpretation True Impaired Inferred relationship Some 4
Congenital muscular dystrophy with intellectual disability and severe epilepsy Has interpretation True Impaired Inferred relationship Some 4
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Hereditary cryohydrocytosis with reduced stomatin Has interpretation True Impaired Inferred relationship Some 6
Richieri Costa-da Silva syndrome Has interpretation True Impaired Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Has interpretation True Impaired Inferred relationship Some 7
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Has interpretation True Impaired Inferred relationship Some 4
Macrocephaly, intellectual disability, autism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Congenital muscular dystrophy with intellectual disability Has interpretation True Impaired Inferred relationship Some 4
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Has interpretation True Impaired Inferred relationship Some 4
X-linked intellectual disability due to GRIA3 mutations Has interpretation True Impaired Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Muscle eye brain disease with bilateral multicystic leukodystrophy Has interpretation True Impaired Inferred relationship Some 7
Hyperekplexia epilepsy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
14q32 deletion syndrome Has interpretation False Impaired Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Has interpretation True Impaired Inferred relationship Some 6
X-linked complicated corpus callosum dysgenesis (disorder) Has interpretation True Impaired Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 9
X-linked intellectual disability Brooks type Has interpretation False Impaired Inferred relationship Some 2
X-linked intellectual disability hypotonic face syndrome Has interpretation True Impaired Inferred relationship Some 2
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Has interpretation True Impaired Inferred relationship Some 3
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome Has interpretation True Impaired Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
RERE-related neurodevelopmental syndrome Has interpretation True Impaired Inferred relationship Some 2
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Has interpretation True Impaired Inferred relationship Some 4
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Has interpretation True Impaired Inferred relationship Some 2
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Has interpretation True Impaired Inferred relationship Some 7
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 5
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Combined oxidative phosphorylation defect type 23 Has interpretation True Impaired Inferred relationship Some 6
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Infantile inflammatory bowel disease with neurological involvement (disorder) Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Gabriele-de Vries syndrome Has interpretation True Impaired Inferred relationship Some 2
GNB5-related intellectual disability, cardiac arrhythmia syndrome Has interpretation True Impaired Inferred relationship Some 3
Growth delay, intellectual disability, hepatopathy syndrome Has interpretation True Impaired Inferred relationship Some 3
Non-specific syndromic intellectual disability Has interpretation True Impaired Inferred relationship Some 2
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Has interpretation True Impaired Inferred relationship Some 2
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 3
Witteveen Kolk syndrome Has interpretation True Impaired Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, epilepsy, extrapyramidal syndrome Has interpretation True Impaired Inferred relationship Some 6
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
VPS11-related autosomal recessive hypomyelinating leukodystrophy Has interpretation True Impaired Inferred relationship Some 4
Seizures, scoliosis, macrocephaly syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Has interpretation True Impaired Inferred relationship Some 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 6
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Has interpretation True Impaired Inferred relationship Some 5
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Basel Vanagaite Smirin Yosef syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Has interpretation True Impaired Inferred relationship Some 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation True Impaired Inferred relationship Some 7
Metopic ridging, ptosis, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Angelman syndrome Has interpretation True Impaired Inferred relationship Some 4
Borderline intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 3
Lowe syndrome Has interpretation True Impaired Inferred relationship Some 5
Rett syndrome Has interpretation True Impaired Inferred relationship Some 4
Moderate intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 3

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